--- Query Results ---

Program:Genetics and Genomics
Test Name:Orotic Acid (G&G South ACH)
Test Code:OR-U
Performing Site: Alberta Children's Hospital
Performing Dept:Biochemical Genetics
Availability:Test is performed on a monthly basis.
TAT:21 days
Preferred Tube/Container:Random specimen: plain urine container
Specimen Requirements:Collect 5-10 mL random urine sample.
Min. Sample Required:1.0 mL urine.
Specimen Processing:1.  If specimen is transferred to secondary aliquot tube or container, write "urine" on label.
2.  Freeze.
Specimen Handling:Transport frozen samples on ice. Samples must not thaw during transport.
Additional Information:Samples will be rejected if:
  • Aliquot tube received thawed
  • Sample type not written on aliquot tube label
    Requisition/Form:Submit request using Biochemical Genetics Laboratory Requisition.
    Please ensure all required information, including patient's clinical history/indication, is provided on the requisition.
    Order Restrictions:This test is considered specialty testing; this test will be cancelled if sufficient clinical justification is not provided.

    This test should not be ordered in conjunction with urine organic acids, as this metabolite is also reported as part of that test, and this test will be reflexively performed on any urine sample with elevated levels detected.
    Indications:For the investigation of primary and secondary urea cycle disorders, and pyrimidine synthesis disorders resulting in orotic aciduria.
    Method:Orotic acid is detected using liquid chromatography, electrospray-ionization tandem mass spectrometry (LS-MS/MS) with a deuterium-labelled internal standard.
    Method Details:Orotic acid can be elevated in the following enzyme deficiencies / disorders:
  • ornithine transcarbamylase deficiency
  • argininosuccinate synthetase deficiency (i.e., type I citrullinemia)
  • argininosuccinate lyase deficiency
  • arginase (ARG1) deficiency
  • lysinuric protein intolerance
  • hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome
  • uridine monophosphate synthase (UMPS) deficiency

    Other causes of elevated orotic acid:
  • congenital folate deficiency

    Metabolite reported:
  • orotic acid
    Reference Interval:
    Orotic Acid        (<24 months)  0.6 – 5.0  mmol/mol creatinine
    Orotic Acid        (>24 months)  0.1 – 3.4  mmol/mol creatinine
    Comments:Contact ACH Biochemical Genetics Laboratory (403-955-7379) for priority turn-around.
    Last Updated On:Thursday, August 17, 2017
    Date of Last Review:Jan 2 2018 12:00AM